Factor X Variant Database
ID: 462
FX:C% (extrinsic) <1
FX:C% (intrinsic)
FX:C% (unknown method)
Reported Bleeding Severity Severe
Case Gender Male
Comments on CaseCase is a double heterozygote: second variant (presumably also dysfunctional) not given in publication; ecchymoses; other bleeding episodes
Functional Analysis
Analysis Type
Reference Morovvati et al 2015

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Type Effect Location in gene Variant (cDNA) Sequence Context Amino Acid No Protein Change Protein Domain
HGVS Legacy
57 8 TBA Abolishes Cys112-Cys121 disulphide link in EGF1 Heterozygous Point Missense Exon 4 c.362G>A TGT TAT 121 81 p.(Cys121Tyr) EGF1